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Rare Diseases under letter "N"
N5-methylhomocysteine transferase deficiency ↗ Nablus mask-like facial syndrome ↗ N-acetyl-alpha-glucosaminidase deficiency ↗ N-acetylgalactosamine 4-sulfatase deficiency ↗ N-acetyl-glucosamine 1-phosphotransferase deficiency ↗ N-acyl-L-amino acid amidohydrolase deficiency ↗ NADH-cytochrome b5reductase deficiency type 1 ↗ NADH-cytochrome b5reductase deficiency type 2 ↗ NADH-diaphorase deficiency type 1 ↗ NADH-diaphorase deficiency type 2 ↗ Naegeli-Franceschetti-Jadassohn syndrome ↗ Naegeli syndrome ↗ NAGA deficiency ↗ NAGA type 1 ↗ NAGA type 2 ↗ NAGA type 3 ↗ Nager acrofacial dysostosis ↗ Nager syndrome ↗ NAGS deficiency ↗ Naguib-Richieri-Costa syndrome ↗ Na-H exchange deficiency ↗ Nail dysplasia - camptodactyly - brachydactyly type B ↗ Nail patella-like - renal disease ↗ Nail-patella syndrome ↗ NAIT ↗ Naito-Oyanagi disease ↗ Najjar syndrome ↗ Nakagawa's angioblastoma ↗ Nakajo-Nishimura syndrome ↗ Nakajo syndrome ↗ Nakamura-Osame syndrome ↗ NALP12-associated hereditary periodic fever syndrome ↗ NAME syndrome ↗ Nance-Horan syndrome ↗ Nanophthalmia ↗ NAO syndrome ↗ NAPS12 ↗ Narcolepsy-cataplexy ↗ Narcolepsy without cataplexy ↗ NARP syndrome ↗ Nasal dermoid cyst ↗ Nasal dermoid sinus cyst ↗ Nasal dorsum fistula/cyst ↗ Nasal encephalocele ↗ Nasal ganglioglioma ↗ Nasal glial heterotopia ↗ Nasal glioma ↗ Nasodigitoacoustic syndrome ↗ Nasolacrimal duct cyst ↗ Nasopalpebral lipoma - coloboma - telecanthus ↗ Nasopharyngeal cancer ↗ Nasopharyngeal teratoma ↗ Nasu-Hakola disease ↗ Natal teeth - intestinal pseudoobstruction - patent ductus ↗ Nathalie syndrome ↗ Native American myopathy ↗ Navajo brainstem syndrome ↗ Navajo neurohepatopathy ↗ Navajo neuropathy ↗ Naxos disease ↗ NBIA ↗ NBIA1 ↗ NBIA1, atypical form ↗ NBIA1, classic form ↗ NBS ↗ NBSLD ↗ NBS-like disorder ↗ NCHI ↗ NCL ↗ NCL, Northern epilepsy variant ↗ NCMD ↗ NDM ↗ Necrobiotic xanthogranuloma ↗ Nelson syndrome ↗ Nemaline myopathy ↗ Neonatal acute respiratory distress with surfactant metabolism deficiency ↗ Neonatal adrenoleukodystrophy ↗ Neonatal brainstem dysfunction ↗ Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys ↗ Neonatal diabetes mellitus ↗ Neonatal hemochromatosis ↗ Neonatal hypoxic and ischemic brain injury ↗ Neonatal intrahepatic cholestasis caused by citrin deficiency ↗ Neonatal intrahepatic cholestasis due to citrin deficiency ↗ Neonatal iodine exposure ↗ Neonatal membranous glomerulopathy with maternal NEP deficiency ↗ Neonatal multiple carboxylase deficiency ↗ Neonatal neutropenia ↗ Neonatal Onset Multisystem Inflammatory Disease ↗ Neonatal osseous dysplasia type 1 ↗ Neonatal ovarian cyst ↗ Neonatal progeroid syndrome ↗ Neonatal respiratory distress syndrome ↗ Neonatal severe primary hyperparathyroidism ↗ Neovascular glaucoma ↗ Nephroblastoma ↗ Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor ↗ Nephrogenic diabetes insipidus ↗ Nephrogenic diabetes insipidus - intracranial calcification ↗ Nephrogenic fibrosing dermopathy ↗ Nephrogenic syndrome of inappropriate antidiuresis ↗ Nephrogenic systemic fibrosis ↗ Nephrolithiasis type 1 ↗ Nephrolithiasis type 2 ↗ Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit ↗ Nephropathy - deafness - hyperparathyroidism ↗ Nephrosis - deafness - urinary tract - digital malformations ↗ Nephrosis - neuronal dysmigration syndrome ↗ Nestor-Guillermo progeria syndrome ↗ Netherton syndrome ↗ Neuhauser-Daly-Magnelli syndrome ↗ Neuhauser-Eichner-Opitz syndrome ↗ Neuhauser's anomaly ↗ Neu-Laxova syndrome ↗ Neural crest tumor ↗ Neuralgic shoulder amyotrophy ↗ Neuraminidase deficiency with beta-galactosidase deficiency ↗ Neurenteric cyst ↗ Neurilemmoma ↗ Neurilemmomatosis ↗ Neurilemoma ↗ Neuroaxonal dystrophy - renal tubular acidosis ↗ Neuroaxonal dystrophy, Schindler type ↗ Neuroblastoma ↗ Neurocutaneous melanosis ↗ Neurocutaneous syndrome, Bicknell type ↗ Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ↗ Neurodegeneration with brain iron accumulation ↗ Neurodegeneration with brain iron accumulation type 1 ↗ Neurodegeneration with brain iron accumulation type 1, atypical form ↗ Neurodegeneration with brain iron accumulation type 1, classic form ↗ Neurodegenerative syndrome due to cerebral folate transport deficiency ↗ Neuroectodermal dysplasia, CHIME type ↗ Neuroectodermal-endocrine syndrome ↗ Neuroectodermal melanolysosomal disease ↗ Neuroectodermal syndrome, Johnson type ↗ Neuroectodermal syndrome, Zunich type ↗ Neuroendocrine cell hyperplasia of infancy ↗ Neuroepithelioma ↗ Neurofaciodigitorenal syndrome ↗ Neuroferritinopathy ↗ Neurofibroma ↗ Neurofibromatosis 1-like syndrome ↗ Neurofibromatosis - Noonan syndrome ↗ Neurofibromatosis type 1 ↗ Neurofibromatosis type 1 microdeletion syndrome ↗ Neurofibromatosis type 2 ↗ Neurofibromatosis type 3 ↗ Neurofibromatosis type 6 ↗ Neurofibrosarcoma ↗ Neurogenic acroosteolysis ↗ Neurogenic arthrogryposis multiplex congenita ↗ Neurogenic diabetes insipidus ↗ Neurogenic sarcoma ↗ Neurogenic scapuloperoneal syndrome ↗ Neurolemmoma ↗ Neuroleptic malignant syndrome ↗ Neurolipomatosis ↗ Neurological conditions associated with aminoacylase 1 deficiency ↗ Neurologic Waardenburg-Shah syndrome ↗ Neurolymphomatosis ↗ Neurometabolic disorder due to serine deficiency ↗ Neuromyelitis optica ↗ Neuronal ceroid lipofuscinosis ↗ Neuronal ceroid lipofuscinosis, Northern epilepsy variant ↗ Neuronal intestinal pseudoobstruction ↗ Neuronal intranuclear inclusion disease ↗ Neuropathy - ataxia - retinitis pigmentosa ↗ Neuropathy with hearing impairment ↗ Neurosensory deafness - pituitary dwarfism ↗ Neurosensory deafness with dilated cardiomyopathy ↗ Neurosensory hearing loss - pituitary dwarfism ↗ Neurosensory hearing loss with dilated cardiomyopathy ↗ Neurotrophic keratitis ↗ Neurotrophic keratopathy ↗ Neutral lipid storage disease ↗ Neutral lipid storage disease with ichthyosis ↗ Neutral lipid storage disease with myopathy without ichthyosis ↗ Neutral lipid storage myopathy ↗ Neutropenia - hyperlymphocytosis with large granular lymphocytes ↗ Neutropenia - monocytopenia - deafness ↗ Neutrophil immunodeficiency syndrome ↗ Neutrophil-specific granule deficiency ↗ Nevi - atrial myxoma - myxoid neurofibromata - ephelides ↗ Nevi flammei ↗ Nevoid basal cell carcinoma syndrome ↗ Nevo syndrome ↗ Nevus anelasticus ↗ Nevus comedonicus syndrome ↗ Nevus elasticus ↗ Nevus fusculocoeruleus ophthalmomaxillaris ↗ Nevus of Ito ↗ Nevus of Ota ↗ Nevus Sebaceus of Jadassohn ↗ Nevus sebaceus syndrome ↗ Nezelof syndrome ↗ NF1 ↗ NF1-like syndrome ↗ NF1 microdeletion syndrome ↗ NF2 ↗ NF3 ↗ NF6 ↗ NFJ syndrome ↗ NGPS ↗ NHL ↗ NICCD ↗ NICH ↗ Nicolaides-Baraitser syndrome ↗ Niemann-Pick disease ↗ Niemann-Pick disease, Nova Scotia type ↗ Niemann-Pick disease type A ↗ Niemann-Pick disease type B ↗ Niemann-Pick disease type C ↗ Niemann-Pick disease type C, adult neurologic onset ↗ Niemann-Pick disease type C, classic form ↗ Niemann-Pick disease type C, juvenile neurologic onset ↗ Niemann-Pick disease type C, late infantile neurologic onset ↗ Niemann-Pick disease type C, severe early infantile neurologic onset ↗ Niemann-Pick disease type C, severe perinatal ↗ Niemann-Pick disease type D ↗ Niemann-Pick disease type E ↗ Nievergelt syndrome ↗ Night blindness - skeletal anomalies - dysmorphism ↗ Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia ↗ Niikawa-Kuroki syndrome ↗ Nijmegen breakage syndrome ↗ Nijmegen breakage syndrome-like disorder ↗ Nipah fever ↗ NI-PHH ↗ NISCH syndrome ↗ Nivelon-Nivelon-Mabille syndrome ↗ NK-cell enteropathy ↗ NLSDI ↗ NLSDM ↗ Noble-Bass-Sherman syndrome ↗ Nocardiosis ↗ Nocturnal frontal lobe epilepsy ↗ Nodal marginal zone B-cell lymphoma ↗ Nodular cutaneous amyloidosis ↗ Nodular erythema - digital changes ↗ Nodular lichen myxedematosus ↗ Nodular lymphocyte predominant Hodgkin lymphoma ↗ Nodular neuronal heterotopia ↗ Nodular non-suppurative panniculitis ↗ Nodular regenerative hyperplasia of the liver ↗ Nodular sclerosis classical Hodgkin lymphoma ↗ Nodulosis-arthropathy-osteolysis syndrome ↗ Noma ↗ NOMID syndrome ↗ Non-24-Hour Sleep-Wake syndrome ↗ Nonacquired combined pituitary hormone deficiency ↗ Nonacquired combined pituitary hormone deficiency with spine abnormalities ↗ Non-acquired isolated central diabetes insipidus ↗ Nonacquired isolated growth hormone deficiency ↗ Nonaka myopathy ↗ Nonamyloid fibrillary glomerulopathy ↗ Non-amyloid monoclonal immunoglobulin deposition disease ↗ Noncerebral juvenile Gaucher disease ↗ Non cirrhotic nodulation ↗ Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ↗ Non-distal 10p deletion ↗ Non-distal 10q deletion ↗ Non-distal deletion 12q ↗ Non-distal deletion 16p ↗ Non-distal deletion 20q ↗ Non-distal deletion 7p ↗ Non-distal duplication 10q ↗ Non-distal duplication 12p ↗ Non-distal duplication 13q ↗ Non-distal duplication 9q ↗ Non-distal monosomy 10p ↗ Non-distal monosomy 10q ↗ Non-distal monosomy 12q ↗ Non-distal monosomy 16p ↗ Non-distal monosomy 20q ↗ Non-distal monosomy 7p ↗ Non-distal tetrasomy 15q ↗ Non-distal trisomy 10q ↗ Non-distal trisomy 12p ↗ Non-distal trisomy 13q ↗ Non-distal trisomy 9q ↗ Non-epidermolytic palmoplantar keratoderma ↗ Noneruption of teeth - maxillary hypoplasia - genu valgum ↗ Non-familial dilated cardiomyopathy ↗ Non-familial hypertrophic cardiomyopathy ↗ Non-familial restrictive cardiomyopathy ↗ Non-fluent primary progressive aphasia ↗ Non-fluent variant PPA ↗ Non-giant cell granulomatous temporal arteritis with eosinophilia ↗ Non-herpetic acute limbic encephalitis ↗ Non-Hodgkin lymphoma ↗ Non-infectious uveitis affecting the posterior segment of the eye ↗ Non-involuting congenital hemangioma ↗ Non-Leber type optic atrophy with early-onset ↗ Nonneurologic neurologic bladder ↗ Nonopalescent opalescent dentin ↗ Non-papillary transitional cell carcinoma of the bladder ↗ Non-papillary urothelial carcinoma ↗ Nonphenylketonuric hyperphenylalaninemia ↗ Nonpolyposis Turcot syndrome ↗ Non progressive cerebellar ataxia - intellectual deficit ↗ Non-rhizomelic chondrodysplasia punctata ↗ Non secreting chemodectoma ↗ Non secreting paraganglioma ↗ Non-secreting pituitary adenoma ↗ Nonskeletal hyper IgE syndrome ↗ Nonspecific idiopathic interstitial pneumonia ↗ Nonspecific interstitial pneumonia ↗ Nonspecific X-linked intellectual deficit ↗ Nonspherocytic hemolytic anemia due to hexokinase deficiency ↗ Nonsyndromic bicoronal synostosis ↗ Nonsyndromic bile ducts paucity ↗ Nonsyndromic metopic craniosynostosis ↗ Nonsyndromic oxycephaly ↗ Nonsyndromic RXLI ↗ Nonsyndromic sagittal synostosis ↗ Nonsyndromic unicoronal synostosis ↗ Nonsyndromic X-linked ichthyosis ↗ Non-telomeric monosomy 10p ↗ Non-telomeric monosomy 10q ↗ Non-telomeric monosomy 12q ↗ Non-telomeric monosomy 16p ↗ Non-telomeric monosomy 20q ↗ Non-telomeric monosomy 7p ↗ Non-telomeric tetrasomy 15q ↗ Non-telomeric trisomy 10q ↗ Non-telomeric trisomy 12p ↗ Non-telomeric trisomy 13q ↗ Non-telomeric trisomy 9q ↗ Non-Wilsonian hepatic copper toxicosis of infancy and childhood ↗ Noonan-like syndrome with loose anagen hair ↗ Noonan syndrome ↗ Noradrenaline deficiency ↗ Norepinephrine deficiency ↗ Normokalemic periodic paralysis ↗ Normokalemic PP ↗ NormoKPP ↗ Normomorphic sialidosis ↗ NormoPP ↗ Normosmic congenital hypogonadotropic hypogonadism ↗ Norrie disease ↗ Norrie-Warburg disease ↗ North Carolina macular dystrophy ↗ North Carolina macular dystrophy, retinal 1 ↗ Northern epilepsy ↗ Norum disease ↗ Nose agenesis ↗ Not NOTCH3-related small vessel disease of the brain ↗ Novak syndrome ↗ Nova syndrome ↗ NPLCA ↗ NS ↗ NSIAD ↗ NSIP ↗ N syndrome ↗ Nuclear cataract ↗ Null syndrome ↗